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VWS1
MCID: VND007
MIFTS: 60

Van Der Woude Syndrome 1 (VWS1)

Categories: Endocrine diseases, Fetal diseases, Genetic diseases, Oral diseases, Rare diseases
Genes Variations Tissues Related diseases Publications Pathways Symptoms & Phenotypes Drugs
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Aliases & Classifications for Van Der Woude Syndrome 1

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MalaCards integrated aliases for Van Der Woude Syndrome 1:

Name: Van Der Woude Syndrome 1 57 72 29 6
Van Der Woude Syndrome 57 12 73 20 43 58 36 13 54 6 44 15 70
Lip-Pit Syndrome 57 12 43 58 72
Cleft Lip and/or Palate with Mucous Cysts of Lower Lip 57 20 43 72
Vdws 57 20 43 72
Lps 57 20 72
Vws 20 43 58
Vws1 57 72
Myopathy, Actin, Congenital, with Excess of Thin Myofilaments 44
Cleft Lip/palate with Mucous Cysts of Lower Lip 58
Van Der Woude Syndrome, Type 1 39
Lip-Pit Syndrome; Lps; Pit 57
Lip Pit Syndrome 20
Lip Pit 29
Pit 72

Characteristics:

Orphanet epidemiological data:

58
van der woude syndrome
Inheritance: Autosomal dominant,Not applicable; Prevalence: 1-9/100000 (Finland),1-9/100000 (France),1-9/100000 (Australia),1-9/1000000 (Taiwan, Province of China),1-9/1000000 (United States),1-9/100000 (Europe); Age of onset: Neonatal; Age of death: normal life expectancy;

OMIM®:

57 (Updated 20-May-2021)
Inheritance:
autosomal dominant


HPO:

31
van der woude syndrome 1:
Inheritance autosomal dominant inheritance


Classifications:

MalaCards categories:
Global: Genetic diseases Rare diseases Fetal diseases
Anatomical: Endocrine diseases Oral diseases
See all MalaCards categories (disease lists)
ICD10: 32 33
Orphanet: 58  
Developmental anomalies during embryogenesis


External Ids:

Disease Ontology 12 DOID:0060239
OMIM® 57 119300
KEGG 36 H01927
NCIt 50 C74986
SNOMED-CT 67 79261008
ICD10 32 Q38.0
MESH via Orphanet 45 C536528
ICD10 via Orphanet 33 Q38.0
UMLS via Orphanet 71 C0175697
Orphanet 58 ORPHA888
UMLS 70 C0175697 C1834339
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Summaries for Van Der Woude Syndrome 1

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KEGG : 36 Van der Woude syndrome (VWS), the most frequent form of syndromic clefting, is a rare developmental, congenital malformation with autosomal dominant inheritance, high penetrance, and variable expressivity. Clinical manifestation includes bilateral midline lower lip pits, cleft lip, and cleft palate along with hypodontia. The other associated features of VWS which may or may not be present are hypoplasia, ankyloglossia, high arched palate, limb anomalies, congenital heart defects, and so forth. Popliteal pterygium syndrome (PPS) is an allelic syndrome of VWS. These syndromes emanate mainly from etiologic variants in IRF6 gene, though GRHL3 has been shown to be mutated in about 5% of VWS patients that lack etiologic variants in IRF6. Etiologic IRF6 variants account for over 70% of cases of VWS. The treatment of VWS patients includes all necessary surgical and multidisciplinary procedures for the correction of serious anomalies including clefts.

MalaCards based summary : Van Der Woude Syndrome 1, also known as van der woude syndrome, is related to van der woude syndrome 2 and popliteal pterygium syndrome. An important gene associated with Van Der Woude Syndrome 1 is IRF6 (Interferon Regulatory Factor 6), and among its related pathways/superpathways are Wnt / Hedgehog / Notch and Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers. The drugs Vasodilator Agents and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include heart, pituitary and tongue, and related phenotypes are cleft palate and lower lip pit

Disease Ontology : 12 A syndrome characterized by the combination of lower lip pits, cleft lip with or without cleft palate and cleft palate alone.

MedlinePlus Genetics : 43 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip, a cleft palate (an opening in the upper lip or roof of the mouth), or both. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth.People with van der Woude syndrome who have cleft lip and/or palate, like other individuals with these facial conditions, have an increased risk of delayed language development, learning disabilities, or other mild cognitive problems. The average IQ of individuals with van der Woude syndrome is not significantly different from that of the general population.

GARD : 20 Van der Woude syndrome is a condition that affects the development of the face. Many people with this disorder are born with a cleft lip and/or a cleft palate. Affected individuals usually have depressions (pits) near the center of the lower lip, which may appear moist due to the presence of salivary and mucous glands in the pits. Small mounds of tissue on the lower lip may also occur. In some cases, people with van der Woude syndrome have missing teeth. Growth and intelligence are usually normal. This condition is caused by mutations in the IRF6 gene and is inherited in a autosomal dominant fashion. Van der Woude syndrome represents the mild end of the spectrum of disorders known as IRF6-related disorders. At the more severe end of the spectrum is popliteal pterygium syndrome.

OMIM® : 57 Van der Woude syndrome (VWS) is a dominantly inherited developmental disorder characterized by pits and/or sinuses of the lower lip, and cleft lip and/or cleft palate (CL/P, CP). It is the most common cleft syndrome. (119300) (Updated 20-May-2021)

UniProtKB/Swiss-Prot : 72 Van der Woude syndrome 1: An autosomal dominant developmental disorder characterized by lower lip pits, cleft lip and/or cleft palate.

Wikipedia : 73 Van der Woude syndrome (VDWS) is a genetic disorder characterized by the combination of lower lip pits,... more...

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Related Diseases for Van Der Woude Syndrome 1

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Diseases in the Van Der Woude Syndrome 1 family:

Van Der Woude Syndrome 2

Diseases related to Van Der Woude Syndrome 1 via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 946)
# Related Disease Score Top Affiliating Genes
1 van der woude syndrome 2 32.0 GRHL3 CFAP57
2 popliteal pterygium syndrome 31.5 VAX1 TGFB3 TFAP2A TBX22 RIPK4 NECTIN1
3 cleft lip/palate 31.4 TP63 TBX22 PHF8 NECTIN1 MSX1 IRF6
4 syngnathia 31.3 MSX1 IRF6
5 ankyloglossia with or without tooth anomalies 31.2 TBX22 PAX9 MSX1 IRF6
6 chromosome 2q35 duplication syndrome 31.1 TP63 NECTIN1 MSX1 IRF6
7 cleft lip 31.1 VAX1 TP63 TGFB3 TFAP2A TBX10 PHF8
8 cleft lip with or without cleft palate 30.9 TFAP2A TBX10 NECTIN1 MSX1 IRF6 FOXE1
9 cleft lip and alveolus 30.9 TP63 NECTIN1 MSX1 IRF6
10 cleft palate, isolated 30.7 VAX1 TP63 TGFB3 TFAP2A TBX22 TBX10
11 anodontia 30.7 PAX9 MSX1
12 ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 1 30.7 TP63 NECTIN1 IRF6
13 tooth agenesis 30.1 TP63 TGFB3 TBX22 PAX9 NECTIN1 MSX1
14 orofacial cleft 29.9 VAX1 TP63 TGFB3 TFAP2A TBX22 TBX10
15 ectodermal dysplasia 29.6 TP63 NECTIN1 MSX1 KDF1 GRHL2
16 neural tube defects 29.5 TGFB3 PAX9 MSX1 GRHL3 GRHL2
17 nemaline myopathy 3 12.1
18 van der woude syndrome 1, modifier of 11.5
19 irf6-related disorders 11.5
20 optic disc pit 11.2
21 anti-pit-1 antibody syndrome 11.2
22 dental caries 11.1
23 cavitary optic disc anomalies 11.0
24 molluscum contagiosum 11.0
25 immunodeficiency 67 11.0
26 immunodeficiency 68 10.9
27 preauricular sinus 10.9
28 foveal hypoplasia 1 10.9
29 atrophoderma vermiculata 10.9
30 lowry-maclean syndrome 10.9
31 foveal hypoplasia 2 10.9
32 hyperthermia induced defects 10.9
33 cytokine deficiency 10.9
34 toxic shock syndrome 10.8
35 orofacial cleft 6 10.7
36 adult respiratory distress syndrome 10.7
37 orofacial clefting syndrome 10.7
38 periodontitis 10.7
39 bacterial infectious disease 10.6
40 retinal detachment 10.6
41 bone resorption disease 10.5
42 pulmonary edema 10.5
43 mastitis 10.5
44 retinoschisis 1, x-linked, juvenile 10.5
45 triiodothyronine receptor auxiliary protein 10.4
46 vitreous detachment 10.4
47 peritonitis 10.4
48 proteasome-associated autoinflammatory syndrome 1 10.4
49 acute liver failure 10.4
50 pituitary hormone deficiency, combined, 2 10.4

Graphical network of the top 20 diseases related to Van Der Woude Syndrome 1:



Diseases related to Van Der Woude Syndrome 1
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Symptoms & Phenotypes for Van Der Woude Syndrome 1

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Human phenotypes related to Van Der Woude Syndrome 1:

58 31 (show all 7)
# Description HPO Frequency Orphanet Frequency HPO Source Accession
1 cleft palate 58 31 frequent (33%) Frequent (79-30%) HP:0000175
2 lower lip pit 58 31 frequent (33%) Frequent (79-30%) HP:0000196
3 cleft upper lip 58 31 occasional (7.5%) Occasional (29-5%) HP:0000204
4 hypodontia 58 31 occasional (7.5%) Occasional (29-5%) HP:0000668
5 abnormal salivary gland morphology 58 31 occasional (7.5%) Occasional (29-5%) HP:0010286
6 bifid uvula 31 HP:0000193
7 lip pit 58 Very frequent (99-80%)

Symptoms via clinical synopsis from OMIM®:

57 (Updated 20-May-2021)
Head And Neck Mouth:
cleft palate
cleft lip
lower lip pits
cleft uvula

Head And Neck Teeth:
hypodontia

Clinical features from OMIM®:

119300 (Updated 20-May-2021)

GenomeRNAi Phenotypes related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

26
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.55 MSX1
2 Decreased viability GR00221-A-2 9.55 ARHGAP29
3 Decreased viability GR00221-A-3 9.55 RIPK4
4 Decreased viability GR00221-A-4 9.55 ARHGAP29
5 Decreased viability GR00249-S 9.55 RIPK4 TFAP2A TP63
6 Decreased viability GR00381-A-1 9.55 GRHL2 GRHL3 KDF1
7 Decreased viability GR00386-A-1 9.55 GRHL3 PAX9 TBX22
8 Decreased viability GR00402-S-2 9.55 KDF1 MSX1 PAX9 TBX22

MGI Mouse Phenotypes related to Van Der Woude Syndrome 1:

46 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 craniofacial MP:0005382 10.48 ARHGAP29 FOXE1 GRHL2 GRHL3 HR IRF6
2 growth/size/body region MP:0005378 10.43 ARHGAP29 FOXE1 GRHL2 GRHL3 HR IRF6
3 behavior/neurological MP:0005386 10.39 ARHGAP29 CFAP57 GRHL2 GRHL3 HR MSX1
4 digestive/alimentary MP:0005381 10.39 ARHGAP29 FOXE1 GRHL3 HR IRF6 KDF1
5 mortality/aging MP:0010768 10.3 ARHGAP29 FOXE1 GRHL2 GRHL3 HR IRF6
6 cellular MP:0005384 10.28 GRHL3 HR IRF6 KDF1 PHF8 RIPK4
7 embryo MP:0005380 10.19 ARHGAP29 GRHL2 GRHL3 HR IRF6 MSX1
8 integument MP:0010771 10.17 FOXE1 GRHL3 HR IRF6 KDF1 MSX1
9 limbs/digits/tail MP:0005371 10.1 GRHL2 GRHL3 IRF6 KDF1 MSX1 PAX9
10 hearing/vestibular/ear MP:0005377 10.06 ARHGAP29 HR IRF6 KDF1 MSX1 PAX9
11 nervous system MP:0003631 10.06 CFAP57 GRHL2 GRHL3 HR MSX1 PHF8
12 normal MP:0002873 9.86 GRHL3 MSX1 PAX9 TBX10 TBX22 TFAP2A
13 respiratory system MP:0005388 9.81 GRHL2 KDF1 MSX1 PAX9 RIPK4 TBX22
14 skeleton MP:0005390 9.7 GRHL2 GRHL3 IRF6 MSX1 NECTIN1 PAX9
15 vision/eye MP:0005391 9.32 GRHL2 GRHL3 HR MSX1 NECTIN1 TBX10
Sources

Drugs & Therapeutics for Van Der Woude Syndrome 1

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Drugs for Van Der Woude Syndrome 1 (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):


# Name Status Phase Clinical Trials Cas Number PubChem Id
1 Vasodilator Agents
2 Protective Agents
3 Polymethyl Methacrylate

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Incidence of Postoperative Pain After Root Canal Preparation Using Three Different Instrumentation System Manufactured From Different Ni-Ti Alloys Completed NCT03791762
2 E. Faecalis Prevalence in Primary and Secondary Endodontic Infections: a Pre-post Microbial Analysis Following Chemo-mechanical Preparation Completed NCT04637659

Search NIH Clinical Center for Van Der Woude Syndrome 1

Cochrane evidence based reviews: van der woude syndrome

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Genetic Tests for Van Der Woude Syndrome 1

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Genetic tests related to Van Der Woude Syndrome 1:

# Genetic test Affiliating Genes
1 Van Der Woude Syndrome 1 29 IRF6
2 Lip Pit 29
Sources

Anatomical Context for Van Der Woude Syndrome 1

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MalaCards organs/tissues related to Van Der Woude Syndrome 1:

40
Heart, Pituitary, Tongue, Liver, Lung, Bone, Brain
Sources

Publications for Van Der Woude Syndrome 1

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Articles related to Van Der Woude Syndrome 1:

(show top 50) (show all 305)
# Title Authors PMID Year
1
Three novel mutations of the IRF6 gene with one associated with an unusual feature in Van der Woude syndrome. 6 57 61 54
19842205 2009
2
A novel mutation in IRF6 resulting in VWS-PPS spectrum disorder with renal aplasia. 61 6 54 57
18478600 2008
3
Mutations in IRF6 cause Van der Woude and popliteal pterygium syndromes. 61 54 6 57
12219090 2002
4
Epidemiology of Van der Woude syndrome from mutational analyses in affected patients from Pakistan. 61 6 57
20184620 2010
5
Six families with van der Woude and/or popliteal pterygium syndrome: all with a mutation in the IRF6 gene. 6 57
14757865 2004
6
Prevalence and nonrandom distribution of exonic mutations in interferon regulatory factor 6 in 307 families with Van der Woude syndrome and 37 families with popliteal pterygium syndrome. 61 54 6
19282774 2009
7
Missense mutations that cause Van der Woude syndrome and popliteal pterygium syndrome affect the DNA-binding and transcriptional activation functions of IRF6. 6 54 61
19036739 2009
8
A familial case of popliteal pterygium syndrome. 54 61 6
18617879 2008
9
Novel IRF6 mutations in Chinese patients with Van der Woude syndrome. 6 54 61
16998136 2006
10
Identification of novel mutations of IRF6 gene in Chinese families with Van der Woude syndrome. 54 61 6
16211254 2005
11
Two missense mutations in the IRF6 gene in two Japanese families with Van der Woude syndrome. 61 54 6
15472655 2004
12
Novel mutations in the IRF6 gene for Van der Woude syndrome. 61 54 6
12920575 2003
13
Novel IRF6 mutations in Japanese patients with Van der Woude syndrome: two missense mutations (R45Q and P396S) and a 17-kb deletion. 54 6 61
14618417 2003
14
Novel IRF6 Mutations Detected in Orofacial Cleft Patients by Targeted Massively Parallel Sequencing. 6 61
27834299 2017
15
Disease-associated mutations in IRF6 and RIPK4 dysregulate their signalling functions. 6 61
25784454 2015
16
Novel IRF6 mutations in families with Van Der Woude syndrome and popliteal pterygium syndrome from sub-Saharan Africa. 6 61
24936515 2014
17
An etiologic regulatory mutation in IRF6 with loss- and gain-of-function effects. 57 61
24442519 2014
18
Dominant mutations in GRHL3 cause Van der Woude Syndrome and disrupt oral periderm development. 61 6
24360809 2014
19
Association and Mutation Analyses of the IRF6 Gene in Families With Nonsyndromic and Syndromic Cleft Lip and/or Cleft Palate. 6 61
23394314 2014
20
Comparative analysis of IRF6 variants in families with Van der Woude syndrome and popliteal pterygium syndrome using public whole-exome databases. 6 61
23154523 2013
21
Novel IRF6 mutations in Honduran Van der Woude syndrome patients. 61 6
21468557 2011
22
IRF6 Screening of Syndromic and a priori Non-Syndromic Cleft Lip and Palate Patients: Identification of a New Type of Minor VWS Sign. 6 61
21045959 2010
23
Variable phenotypic manifestation of IRF6 mutations in the Van der Woude syndrome and popliteal pterygium syndrome: implications for genetic counseling. 6 61
19623037 2009
24
Abnormal brain structure in adults with Van der Woude syndrome. 61 57
17539900 2007
25
Matroshka and ectopic polymorphisms: Two new classes of DNA sequence variation identified at the Van der Woude syndrome locus on 1q32-q41. 57 61
11668635 2001
26
Possible relationship between the van der Woude syndrome (vWS) locus and nonsyndromic cleft lip with or without cleft palate (NSCL/P). 61 57
11746036 2001
27
Mapping of the second locus for the Van der Woude syndrome to chromosome 1p34. 61 6
11781685 2001
28
Genetic heterogeneity and exclusion of a modifying locus at 17p11.2-p11.1 in Finnish families with van der Woude syndrome. 61 57
11303516 2001
29
Report of two cases with Van der Woude syndrome: a child and her mother. 57 61
11837602 2001
30
1q32-q41 microdeletion with reference to Van der Woude syndrome and allied clefting entities. 61 57
10748420 2000
31
Popliteal pterygium syndrome: a clinical study of three families and report of linkage to the Van der Woude syndrome locus on 1q32. 61 57
10593995 1999
32
Linkage analysis in a large Brazilian family with van der Woude syndrome suggests the existence of a susceptibility locus for cleft palate at 17p11.2-11.1. 61 57
10417286 1999
33
Confirmation of linkage of Van der Woude syndrome to chromosome 1q32: evidence of association with STR alleles suggests possible unique origin of the disease mutation. 61 57
10589394 1999
34
Microdeletions at chromosome bands 1q32-q41 as a cause of Van der Woude syndrome. 57 61
10323740 1999
35
Linkage analysis of 5 novel van der Woude syndrome kindreds to 1q32-q41 markers further supports locus homogeneity of the disease trait. 61 57
10434119 1999
36
Refinement of the Van der Woude gene location and construction of a 3.5-Mb YAC contig and STS map spanning the critical region in 1q32-q41. 61 57
8884274 1996
37
Evidence for a microdeletion in 1q32-41 involving the gene responsible for Van der Woude syndrome. 57 61
8069301 1994
38
Linkage of an autosomal dominant clefting syndrome (Van der Woude) to loci on chromosome Iq. 61 57
2309700 1990
39
Linkage studies in a pedigree with Van der Woude syndrome. 57 61
3572998 1987
40
Lip pits and deletion 1q32----41. 57 61
3812594 1987
41
van der Woude syndrome in two families in China. 61 57
3429616 1987
42
The Van der Woude syndrome (dominantly inherited lip pits and clefts). 57 61
3746828 1986
43
Genetic analysis in families with van der Woude syndrome. 61 57
4019732 1985
44
Correlations between microforms of the Van der Woude syndrome and cleft palate. 61 57
6573981 1983
45
The van der Woude syndrome in a large kindred: variability, penetrance, genetic risks. 61 57
7395906 1980
46
The penetrance and variable expression of the Van der Woude syndrome: implications for genetic counseling. 61 57
6928118 1980
47
Linkage studies in Van der Woude syndrome. 57 61
671486 1978
48
Exome sequencing has higher diagnostic yield compared to simulated disease-specific panels in children with suspected monogenic disorders. 6
29453417 2018
49
Clinical and molecular findings in a Moroccan patient with popliteal pterygium syndrome: a case report. 6
25547932 2014
50
Skinfold over toenail is pathognomonic for the popliteal pterygium syndrome in a Congolese family with large intrafamilial variability. 6
25548624 2014
Sources

Variations for Van Der Woude Syndrome 1

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ClinVar genetic disease variations for Van Der Woude Syndrome 1:

6 (show top 50) (show all 188)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 IRF6 NM_006147.4(IRF6):c.274G>T (p.Glu92Ter) SNV Pathogenic 3411 rs121434224 GRCh37: 1:209969798-209969798
GRCh38: 1:209796453-209796453
2 IRF6 NM_006147.4(IRF6):c.870_888delinsA (p.Phe290_Asp296delinsLeu) Indel Pathogenic 3412 rs587776569 GRCh37: 1:209964012-209964030
GRCh38: 1:209790667-209790685
3 IRF6 NM_006147.4(IRF6):c.5C>T (p.Ala2Val) SNV Pathogenic 3416 rs28942093 GRCh37: 1:209974754-209974754
GRCh38: 1:209801409-209801409
4 IRF6 NM_006147.4(IRF6):c.1137G>A (p.Trp379Ter) SNV Pathogenic 3418 rs121434228 GRCh37: 1:209963054-209963054
GRCh38: 1:209789709-209789709
5 overlap with 2 genes nsv1067914 Deletion Pathogenic 3420 GRCh37: 1:209955818-209972979
GRCh38: 1:209782473-209799634
6 IRF6 NM_006147.4(IRF6):c.134G>A (p.Arg45Gln) SNV Pathogenic 3421 rs121434229 GRCh37: 1:209974625-209974625
GRCh38: 1:209801280-209801280
7 IRF6 NM_006147.4(IRF6):c.1186C>T (p.Pro396Ser) SNV Pathogenic 3422 rs121434230 GRCh37: 1:209961983-209961983
GRCh38: 1:209788638-209788638
8 IRF6 NM_006147.4(IRF6):c.1199G>A (p.Arg400Gln) SNV Pathogenic 101515 rs200166664 GRCh37: 1:209961970-209961970
GRCh38: 1:209788625-209788625
9 GRHL3 NM_198173.3(GRHL3):c.970_971insGT (p.Phe324fs) Insertion Pathogenic 101516 rs879255573 GRCh37: 1:24666174-24666175
GRCh38: 1:24339684-24339685
10 GRHL3 NM_198173.3(GRHL3):c.1559_1562GGAG[1] (p.Glu522fs) Microsatellite Pathogenic 101517 rs879255243 GRCh37: 1:24673973-24673976
GRCh38: 1:24347483-24347486
11 GRHL3 NM_198173.3(GRHL3):c.893G>A (p.Arg298His) SNV Pathogenic 101518 rs752673677 GRCh37: 1:24664534-24664534
GRCh38: 1:24338044-24338044
12 GRHL3 NM_198173.3(GRHL3):c.1419+1G>T SNV Pathogenic 101519 rs879255244 GRCh37: 1:24669516-24669516
GRCh38: 1:24343026-24343026
13 GRHL3 NM_198173.3(GRHL3):c.1171C>T (p.Arg391Cys) SNV Pathogenic 101520 rs879255245 GRCh37: 1:24668728-24668728
GRCh38: 1:24342238-24342238
14 IRF6 NM_006147.4(IRF6):c.113T>C (p.Ile38Thr) SNV Pathogenic 397639 rs1060499555 GRCh37: 1:209974646-209974646
GRCh38: 1:209801301-209801301
15 IRF6 NM_006147.4(IRF6):c.1195del (p.Ala399fs) Deletion Pathogenic 458680 rs1553247602 GRCh37: 1:209961974-209961974
GRCh38: 1:209788629-209788629
16 IRF6 NM_006147.4(IRF6):c.720del (p.Thr240_Met241insTer) Deletion Pathogenic 617619 rs1571979802 GRCh37: 1:209964180-209964180
GRCh38: 1:209790835-209790835
17 GRHL3 NM_198173.3(GRHL3):c.899G>A (p.Trp300Ter) SNV Pathogenic 465251 rs1553172687 GRCh37: 1:24664540-24664540
GRCh38: 1:24338050-24338050
18 IRF6 NM_006147.4(IRF6):c.137_174+12del Deletion Pathogenic 872903 GRCh37:
GRCh38:
19 IRF6 NM_006147.4(IRF6):c.373_374dup (p.Asn125fs) Duplication Pathogenic 996215 GRCh37: 1:209969697-209969698
GRCh38: 1:209796352-209796353
20 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) SNV Pathogenic 3417 rs28942094 GRCh37: 1:209974743-209974743
GRCh38: 1:209801398-209801398
21 IRF6 NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) SNV Pathogenic 3419 rs28942095 GRCh37: 1:209961971-209961971
GRCh38: 1:209788626-209788626
22 IRF6 NM_006147.4(IRF6):c.1016G>T (p.Arg339Ile) SNV Pathogenic 3423 rs121434231 GRCh37: 1:209963884-209963884
GRCh38: 1:209790539-209790539
23 IRF6 NM_006147.4(IRF6):c.65T>C (p.Leu22Pro) SNV Pathogenic 30652 rs387906967 GRCh37: 1:209974694-209974694
GRCh38: 1:209801349-209801349
24 IRF6 NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) SNV Pathogenic 40077 rs397515434 GRCh37: 1:209974614-209974614
GRCh38: 1:209801269-209801269
25 IRF6 NM_006147.4(IRF6):c.1210G>A (p.Glu404Lys) SNV Pathogenic 217873 rs769068305 GRCh37: 1:209961959-209961959
GRCh38: 1:209788614-209788614
26 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) SNV Pathogenic 449039 rs1553248641 GRCh37: 1:209974734-209974734
GRCh38: 1:209801389-209801389
27 IRF6 NM_006147.4(IRF6):c.226C>T (p.Pro76Ser) SNV Pathogenic 265196 rs886039388 GRCh37: 1:209969846-209969846
GRCh38: 1:209796501-209796501
28 IRF6 NM_006147.4(IRF6):c.749G>A (p.Arg250Gln) SNV Pathogenic 458684 rs1553247774 GRCh37: 1:209964151-209964151
GRCh38: 1:209790806-209790806
29 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV Pathogenic 458682 rs1553247595 GRCh37: 1:209961935-209961935
GRCh38: 1:209788590-209788590
30 IRF6 NM_006147.4(IRF6):c.1234C>T (p.Arg412Ter) SNV Pathogenic 458682 rs1553247595 GRCh37: 1:209961935-209961935
GRCh38: 1:209788590-209788590
31 IRF6 NM_006147.4(IRF6):c.250C>T (p.Arg84Cys) SNV Pathogenic 3414 rs121434226 GRCh37: 1:209969822-209969822
GRCh38: 1:209796477-209796477
32 IRF6 NM_006147.4(IRF6):c.1314_1324del (p.Gln438fs) Deletion Pathogenic 583293 rs1558038218 GRCh37: 1:209961845-209961855
GRCh38: 1:209788500-209788510
33 IRF6 NM_006147.4(IRF6):c.16C>T (p.Arg6Cys) SNV Pathogenic 3417 rs28942094 GRCh37: 1:209974743-209974743
GRCh38: 1:209801398-209801398
34 IRF6 NM_006147.4(IRF6):c.133del (p.Arg45fs) Deletion Pathogenic 659301 rs1571986293 GRCh37: 1:209974626-209974626
GRCh38: 1:209801281-209801281
35 IRF6 NM_006147.4(IRF6):c.145C>T (p.Gln49Ter) SNV Pathogenic 40077 rs397515434 GRCh37: 1:209974614-209974614
GRCh38: 1:209801269-209801269
36 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV Pathogenic 3415 rs121434227 GRCh37: 1:209969821-209969821
GRCh38: 1:209796476-209796476
37 IRF6 NM_006147.4(IRF6):c.180G>A (p.Trp60Ter) SNV Pathogenic 843190 GRCh37: 1:209969892-209969892
GRCh38: 1:209796547-209796547
38 IRF6 NM_006147.4(IRF6):c.989C>A (p.Ser330Ter) SNV Pathogenic 844327 GRCh37: 1:209963911-209963911
GRCh38: 1:209790566-209790566
39 IRF6 NM_006147.4(IRF6):c.179G>A (p.Trp60Ter) SNV Pathogenic 851809 GRCh37: 1:209969893-209969893
GRCh38: 1:209796548-209796548
40 IRF6 NM_006147.4(IRF6):c.1198C>T (p.Arg400Trp) SNV Pathogenic 3419 rs28942095 GRCh37: 1:209961971-209961971
GRCh38: 1:209788626-209788626
41 IRF6 NM_006147.4(IRF6):c.108_109delinsG (p.Phe36fs) Indel Pathogenic 972274 GRCh37: 1:209974650-209974651
GRCh38: 1:209801305-209801306
42 IRF6 NM_006147.4(IRF6):c.251G>A (p.Arg84His) SNV Pathogenic 3415 rs121434227 GRCh37: 1:209969821-209969821
GRCh38: 1:209796476-209796476
43 IRF6 NM_006147.4(IRF6):c.622C>T (p.Gln208Ter) SNV Pathogenic 938570 GRCh37: 1:209965659-209965659
GRCh38: 1:209792314-209792314
44 IRF6 NM_006147.4(IRF6):c.1121G>A (p.Cys374Tyr) SNV Likely pathogenic 849913 GRCh37: 1:209963070-209963070
GRCh38: 1:209789725-209789725
45 IRF6 NM_006147.4(IRF6):c.292G>C (p.Asp98His) SNV Likely pathogenic 650115 rs1571983348 GRCh37: 1:209969780-209969780
GRCh38: 1:209796435-209796435
46 IRF6 NM_006147.4(IRF6):c.25C>T (p.Arg9Trp) SNV Likely pathogenic 449039 rs1553248641 GRCh37: 1:209974734-209974734
GRCh38: 1:209801389-209801389
47 IRF6 NM_006147.4(IRF6):c.176C>T (p.Ala59Val) SNV Likely pathogenic 663350 rs1571983440 GRCh37: 1:209969896-209969896
GRCh38: 1:209796551-209796551
48 IRF6 NM_006147.4(IRF6):c.950G>A (p.Cys317Tyr) SNV Likely pathogenic 643611 rs1571979607 GRCh37: 1:209963950-209963950
GRCh38: 1:209790605-209790605
49 IRF6 NM_006147.4(IRF6):c.158A>G (p.Glu53Gly) SNV Likely pathogenic 981801 GRCh37: 1:209974601-209974601
GRCh38: 1:209801256-209801256
50 IRF6 NM_006147.4(IRF6):c.120G>T (p.Trp40Cys) SNV Likely pathogenic 458681 rs1553248635 GRCh37: 1:209974639-209974639
GRCh38: 1:209801294-209801294

UniProtKB/Swiss-Prot genetic disease variations for Van Der Woude Syndrome 1:

72 (show all 34)
# Symbol AA change Variation ID SNP ID
1 IRF6 p.Ala2Val VAR_014961 rs28942093
2 IRF6 p.Val18Ala VAR_014962
3 IRF6 p.Val18Met VAR_014963
4 IRF6 p.Pro39Ala VAR_014964
5 IRF6 p.Ala61Gly VAR_014966
6 IRF6 p.Gly70Arg VAR_014968 rs776236749
7 IRF6 p.Pro76Ser VAR_014969 rs886039388
8 IRF6 p.Asn88His VAR_014973
9 IRF6 p.Ser90Gly VAR_014975
10 IRF6 p.Asp98His VAR_014976
11 IRF6 p.Arg250Gln VAR_014977 rs155324777
12 IRF6 p.Gln273Arg VAR_014978
13 IRF6 p.Leu294Pro VAR_014981
14 IRF6 p.Val297Ile VAR_014982 rs779827384
15 IRF6 p.Lys320Glu VAR_014983
16 IRF6 p.Val321Met VAR_014984
17 IRF6 p.Gly325Glu VAR_014985
18 IRF6 p.Leu345Pro VAR_014986
19 IRF6 p.Cys347Phe VAR_014987
20 IRF6 p.Phe369Ser VAR_014988 rs118541231
21 IRF6 p.Cys374Trp VAR_014989
22 IRF6 p.Lys388Glu VAR_014990
23 IRF6 p.Arg6Cys VAR_030046 rs28942094
24 IRF6 p.Ala16Val VAR_030047
25 IRF6 p.Leu22Pro VAR_030048 rs387906967
26 IRF6 p.Arg45Gln VAR_030049 rs121434229
27 IRF6 p.Thr64Ile VAR_030050
28 IRF6 p.Arg84Gly VAR_030051
29 IRF6 p.Thr100Ala VAR_030052
30 IRF6 p.Leu251Pro VAR_030053
31 IRF6 p.Glu349Val VAR_030054
32 IRF6 p.Pro396Ser VAR_030055 rs121434230
33 IRF6 p.Arg400Trp VAR_030056 rs28942095
34 IRF6 p.Arg339Ile VAR_059080 rs121434231

Copy number variations for Van Der Woude Syndrome 1 from CNVD:

7
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 26163 1 197500000 222100000 Microdeletion van der Woude syndrome
2 26164 1 197500000 222100000 Microdeletion IRF6 van der Woude syndrome
Sources

Expression for Van Der Woude Syndrome 1

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Search GEO for disease gene expression data for Van Der Woude Syndrome 1.
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Pathways for Van Der Woude Syndrome 1

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Pathways related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1
Wnt / Hedgehog / Notch 4
11.52 TGFB3 RIPK4 PAX9 MSX1
2
Embryonic and Induced Pluripotent Stem Cell Differentiation Pathways and Lineage-specific Markers 64
11.46 TP63 MSX1 IRF6
3
Hypothetical Craniofacial Development Pathway 1
9.92 TP63 TGFB3 TFAP2A IRF6 ARHGAP29
Sources

GO Terms for Van Der Woude Syndrome 1

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Cellular components related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 nucleus GO:0005634 9.83 VAX1 TP63 TGFB3 TFAP2A TDRP TBX22
2 chromatin GO:0000785 9.44 VAX1 TP63 TFAP2A TBX22 TBX10 PHF8

Biological processes related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 multicellular organism development GO:0007275 10.07 VAX1 TP63 TBX22 PAX9 MSX1 KDF1
2 negative regulation of transcription by RNA polymerase II GO:0000122 10.03 VAX1 TP63 TFAP2A TBX22 MSX1 FOXE1
3 positive regulation of transcription by RNA polymerase II GO:0045944 10.01 TP63 TGFB3 TFAP2A PAX9 MSX1 IRF6
4 negative regulation of transcription, DNA-templated GO:0045892 9.99 TP63 TFAP2A TBX22 PAX9 MSX1 FOXE1
5 regulation of transcription, DNA-templated GO:0006355 9.96 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
6 epidermis development GO:0008544 9.76 TP63 GRHL3 GRHL2
7 positive regulation of transcription, DNA-templated GO:0045893 9.76 TP63 TGFB3 TFAP2A PHF8 IRF6 GRHL3
8 odontogenesis GO:0042476 9.67 TGFB3 PAX9 MSX1
9 embryonic forelimb morphogenesis GO:0035115 9.63 TP63 TFAP2A MSX1
10 embryonic hindlimb morphogenesis GO:0035116 9.61 TP63 MSX1
11 face morphogenesis GO:0060325 9.61 TGFB3 PAX9 MSX1
12 hair follicle morphogenesis GO:0031069 9.6 TP63 FOXE1
13 establishment of planar polarity GO:0001736 9.58 TP63 GRHL3
14 histone H3-K9 demethylation GO:0033169 9.57 PHF8 HR
15 eyelid development in camera-type eye GO:0061029 9.55 TFAP2A GRHL3
16 negative regulation of keratinocyte differentiation GO:0045617 9.54 TP63 GRHL2
17 establishment of skin barrier GO:0061436 9.54 TP63 KDF1 GRHL3
18 regulation of odontogenesis GO:0042481 9.52 PAX9 MSX1
19 cranial skeletal system development GO:1904888 9.5 TP63 IRF6 FOXE1
20 regulation of epidermal cell division GO:0010482 9.48 TP63 KDF1
21 regulation of transcription by RNA polymerase II GO:0006357 9.44 VAX1 TP63 TFAP2A TBX22 TBX10 PHF8
22 roof of mouth development GO:0060021 9.35 VAX1 TFAP2A MSX1 IRF6 FOXE1

Molecular functions related to Van Der Woude Syndrome 1 according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA binding GO:0003677 10.03 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
2 sequence-specific double-stranded DNA binding GO:1990837 9.91 VAX1 TFAP2A PAX9 MSX1 IRF6 FOXE1
3 sequence-specific DNA binding GO:0043565 9.91 TP63 TFAP2A MSX1 IRF6 GRHL3 GRHL2
4 DNA-binding transcription activator activity, RNA polymerase II-specific GO:0001228 9.87 TP63 TFAP2A PAX9 MSX1 IRF6 GRHL3
5 RNA polymerase II regulatory region sequence-specific DNA binding GO:0000977 9.85 TP63 TFAP2A TBX22 PAX9 MSX1
6 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.85 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
7 chromatin DNA binding GO:0031490 9.71 VAX1 HR GRHL3 GRHL2
8 DNA-binding transcription factor activity, RNA polymerase II-specific GO:0000981 9.7 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
9 histone demethylase activity (H3-K9 specific) GO:0032454 9.48 PHF8 HR
10 DNA-binding transcription factor activity GO:0003700 9.32 VAX1 TP63 TFAP2A TBX22 TBX10 PAX9
Sources

Sources for Van Der Woude Syndrome 1

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3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 20-May-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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